Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1.
about
Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations.Mitochondrial dysfunction in liver failure requiring transplantation.
P2860
Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年學術文章
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2011年學術文章
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2011年學術文章
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name
Infantile Progressive Hepatoen ...... n Elongation Factor Gene GFM1.
@ast
Infantile Progressive Hepatoen ...... n Elongation Factor Gene GFM1.
@en
type
label
Infantile Progressive Hepatoen ...... n Elongation Factor Gene GFM1.
@ast
Infantile Progressive Hepatoen ...... n Elongation Factor Gene GFM1.
@en
prefLabel
Infantile Progressive Hepatoen ...... n Elongation Factor Gene GFM1.
@ast
Infantile Progressive Hepatoen ...... n Elongation Factor Gene GFM1.
@en
P2093
P2860
P356
P1476
Infantile Progressive Hepatoen ...... on Elongation Factor Gene GFM1
@en
P2093
L P van den Heuvel
M D Norsiah
S Balasubramaniam
P2860
P304
P356
10.1007/8904_2011_107
P577
2011-12-21T00:00:00Z